Canonical Allele Identifier: CA2654790229
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288809-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288809T>C , CM000683.2:g.44288809T>C GRCh38
NC_000021.8:g.45708692T>C , CM000683.1:g.45708692T>C GRCh37
NC_000021.7:g.44533120T>C NCBI36
NG_009556.1:g.7930T>C , LRG_18:g.7930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+351T>C MANE Select ENSP00000291582.5:n.652+351T>C
ENST00000291582.5:c.652+351T>C ENSP00000291582.5:n.652+351T>C
ENST00000527919.5:n.1196+351T>C
ENST00000530812.5:n.1555T>C
NM_000383.3:c.652+351T>C NP_000374.1:n.652+351T>C
XM_011529551.1:c.652+351T>C XP_011527853.1:n.652+351T>C
NM_000383.4:c.652+351T>C MANE Select NP_000374.1:n.652+351T>C
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